Incidental Mutation 'R6572:Arhgap33'
ID |
526275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgap33
|
Ensembl Gene |
ENSMUSG00000036882 |
Gene Name |
Rho GTPase activating protein 33 |
Synonyms |
Snx26, Tcgap, NOMA-GAP |
MMRRC Submission |
044696-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.185)
|
Stock # |
R6572 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
30221651-30234485 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30226635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 524
(E524G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044338]
[ENSMUST00000207858]
[ENSMUST00000207860]
[ENSMUST00000208491]
[ENSMUST00000208522]
[ENSMUST00000208538]
|
AlphaFold |
Q80YF9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044338
AA Change: E524G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038412 Gene: ENSMUSG00000036882 AA Change: E524G
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
SH3
|
213 |
271 |
5.32e-12 |
SMART |
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
RhoGAP
|
350 |
531 |
4.05e-67 |
SMART |
low complexity region
|
582 |
595 |
N/A |
INTRINSIC |
low complexity region
|
597 |
609 |
N/A |
INTRINSIC |
low complexity region
|
675 |
686 |
N/A |
INTRINSIC |
low complexity region
|
694 |
733 |
N/A |
INTRINSIC |
low complexity region
|
770 |
798 |
N/A |
INTRINSIC |
low complexity region
|
832 |
850 |
N/A |
INTRINSIC |
low complexity region
|
894 |
940 |
N/A |
INTRINSIC |
low complexity region
|
979 |
988 |
N/A |
INTRINSIC |
low complexity region
|
1076 |
1086 |
N/A |
INTRINSIC |
low complexity region
|
1158 |
1166 |
N/A |
INTRINSIC |
low complexity region
|
1194 |
1216 |
N/A |
INTRINSIC |
low complexity region
|
1284 |
1291 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207637
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207858
AA Change: E500G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000207860
AA Change: E524G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208491
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208522
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208538
AA Change: E524G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208723
|
Meta Mutation Damage Score |
0.4293 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (62/64) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010] PHENOTYPE: Mice homozygous for a null mutation display region specific thinning of the cerebral cortex with reduced dendritic complexity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
C |
T |
15: 37,425,961 (GRCm39) |
Q34* |
probably null |
Het |
Adamts3 |
T |
A |
5: 90,009,468 (GRCm39) |
H65L |
possibly damaging |
Het |
Ago2 |
A |
G |
15: 72,998,826 (GRCm39) |
V257A |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,985,340 (GRCm39) |
K2208R |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,147,613 (GRCm39) |
S860L |
probably damaging |
Het |
Arhgap18 |
A |
G |
10: 26,722,412 (GRCm39) |
|
probably null |
Het |
Ascc3 |
C |
T |
10: 50,566,343 (GRCm39) |
Q763* |
probably null |
Het |
Atg2a |
T |
C |
19: 6,304,695 (GRCm39) |
L1184P |
probably damaging |
Het |
Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
Btbd17 |
A |
T |
11: 114,683,046 (GRCm39) |
L222Q |
probably damaging |
Het |
Chst13 |
G |
T |
6: 90,286,588 (GRCm39) |
R125S |
probably benign |
Het |
Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
Cracr2a |
T |
C |
6: 127,585,715 (GRCm39) |
|
probably null |
Het |
Dchs1 |
T |
A |
7: 105,408,013 (GRCm39) |
T1940S |
possibly damaging |
Het |
Ddit4l |
G |
T |
3: 137,332,111 (GRCm39) |
R159L |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,866,674 (GRCm39) |
Y679H |
probably damaging |
Het |
Dyrk4 |
T |
G |
6: 126,874,201 (GRCm39) |
I130L |
probably benign |
Het |
Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly damaging |
Het |
Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
Ephb1 |
A |
G |
9: 101,944,097 (GRCm39) |
F312L |
probably benign |
Het |
Fndc9 |
A |
T |
11: 46,128,708 (GRCm39) |
I76F |
probably damaging |
Het |
Frk |
G |
A |
10: 34,459,963 (GRCm39) |
R186K |
probably benign |
Het |
Gpatch3 |
G |
T |
4: 133,302,191 (GRCm39) |
G41C |
probably damaging |
Het |
Greb1l |
T |
A |
18: 10,522,131 (GRCm39) |
H633Q |
probably benign |
Het |
Gstt4 |
T |
A |
10: 75,650,954 (GRCm39) |
T223S |
probably damaging |
Het |
Hpd |
C |
T |
5: 123,318,739 (GRCm39) |
E60K |
probably benign |
Het |
Inpp5d |
C |
T |
1: 87,623,118 (GRCm39) |
P403S |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,629,159 (GRCm39) |
I189K |
probably benign |
Het |
Kmt2e |
A |
T |
5: 23,702,579 (GRCm39) |
H239L |
possibly damaging |
Het |
Lrriq3 |
A |
G |
3: 154,887,312 (GRCm39) |
D344G |
probably benign |
Het |
Neb |
A |
G |
2: 52,168,859 (GRCm39) |
I1892T |
probably damaging |
Het |
Neto2 |
A |
T |
8: 86,397,033 (GRCm39) |
I73N |
possibly damaging |
Het |
Nipal3 |
A |
T |
4: 135,174,564 (GRCm39) |
S396T |
probably benign |
Het |
Or1e35 |
A |
G |
11: 73,797,629 (GRCm39) |
S230P |
possibly damaging |
Het |
Or51q1c |
T |
A |
7: 103,648,391 (GRCm39) |
|
probably null |
Het |
Phf20l1 |
T |
A |
15: 66,481,396 (GRCm39) |
V264D |
probably damaging |
Het |
Pigs |
A |
G |
11: 78,230,190 (GRCm39) |
Y319C |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,571,824 (GRCm39) |
Y608H |
probably damaging |
Het |
Ppard |
G |
T |
17: 28,516,093 (GRCm39) |
E106* |
probably null |
Het |
Pramel11 |
C |
T |
4: 143,621,943 (GRCm39) |
V471I |
possibly damaging |
Het |
Pramel16 |
A |
G |
4: 143,676,262 (GRCm39) |
S281P |
probably benign |
Het |
Psenen |
T |
C |
7: 30,261,773 (GRCm39) |
T48A |
probably benign |
Het |
Ralgps2 |
A |
T |
1: 156,651,620 (GRCm39) |
|
probably null |
Het |
Ripk4 |
T |
A |
16: 97,547,105 (GRCm39) |
R323* |
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scgb2b24 |
T |
A |
7: 33,437,902 (GRCm39) |
E68D |
probably damaging |
Het |
Setx |
A |
G |
2: 29,063,706 (GRCm39) |
D2334G |
possibly damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,072,643 (GRCm39) |
D497G |
possibly damaging |
Het |
Smarca2 |
A |
T |
19: 26,656,573 (GRCm39) |
I850F |
possibly damaging |
Het |
Smyd1 |
A |
G |
6: 71,202,396 (GRCm39) |
Y270H |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,730,380 (GRCm39) |
|
probably null |
Het |
Srms |
T |
C |
2: 180,854,450 (GRCm39) |
D39G |
probably benign |
Het |
Trpc2 |
T |
A |
7: 101,739,213 (GRCm39) |
I528N |
probably damaging |
Het |
Tshr |
A |
G |
12: 91,505,134 (GRCm39) |
I691V |
probably benign |
Het |
Urb1 |
A |
C |
16: 90,584,302 (GRCm39) |
V560G |
probably benign |
Het |
Usp37 |
A |
G |
1: 74,534,941 (GRCm39) |
S2P |
possibly damaging |
Het |
Vmn1r60 |
G |
A |
7: 5,547,599 (GRCm39) |
S167F |
probably benign |
Het |
Vmn2r89 |
G |
A |
14: 51,693,450 (GRCm39) |
V267I |
probably damaging |
Het |
Washc3 |
T |
A |
10: 88,049,568 (GRCm39) |
D63E |
probably benign |
Het |
Wdr89 |
A |
G |
12: 75,680,159 (GRCm39) |
S32P |
probably damaging |
Het |
Zfp157 |
T |
C |
5: 138,455,313 (GRCm39) |
S504P |
possibly damaging |
Het |
|
Other mutations in Arhgap33 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01092:Arhgap33
|
APN |
7 |
30,229,371 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02176:Arhgap33
|
APN |
7 |
30,223,476 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02430:Arhgap33
|
APN |
7 |
30,222,185 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03091:Arhgap33
|
APN |
7 |
30,227,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R0276:Arhgap33
|
UTSW |
7 |
30,222,669 (GRCm39) |
missense |
probably benign |
0.01 |
R0494:Arhgap33
|
UTSW |
7 |
30,223,921 (GRCm39) |
missense |
probably damaging |
0.98 |
R0597:Arhgap33
|
UTSW |
7 |
30,225,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R0717:Arhgap33
|
UTSW |
7 |
30,227,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R1661:Arhgap33
|
UTSW |
7 |
30,231,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R1761:Arhgap33
|
UTSW |
7 |
30,232,488 (GRCm39) |
splice site |
probably null |
|
R1882:Arhgap33
|
UTSW |
7 |
30,222,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R2161:Arhgap33
|
UTSW |
7 |
30,228,075 (GRCm39) |
splice site |
probably null |
|
R2566:Arhgap33
|
UTSW |
7 |
30,226,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Arhgap33
|
UTSW |
7 |
30,223,561 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4552:Arhgap33
|
UTSW |
7 |
30,218,533 (GRCm39) |
unclassified |
probably benign |
|
R4778:Arhgap33
|
UTSW |
7 |
30,231,518 (GRCm39) |
missense |
probably benign |
|
R4887:Arhgap33
|
UTSW |
7 |
30,231,617 (GRCm39) |
missense |
probably damaging |
0.99 |
R4957:Arhgap33
|
UTSW |
7 |
30,231,786 (GRCm39) |
missense |
probably damaging |
0.96 |
R5001:Arhgap33
|
UTSW |
7 |
30,232,441 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5140:Arhgap33
|
UTSW |
7 |
30,227,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R5585:Arhgap33
|
UTSW |
7 |
30,223,260 (GRCm39) |
missense |
probably benign |
0.00 |
R5704:Arhgap33
|
UTSW |
7 |
30,219,045 (GRCm39) |
unclassified |
probably benign |
|
R5805:Arhgap33
|
UTSW |
7 |
30,225,839 (GRCm39) |
missense |
probably benign |
0.01 |
R6476:Arhgap33
|
UTSW |
7 |
30,223,837 (GRCm39) |
missense |
probably damaging |
0.99 |
R6485:Arhgap33
|
UTSW |
7 |
30,223,429 (GRCm39) |
missense |
probably benign |
|
R7183:Arhgap33
|
UTSW |
7 |
30,225,296 (GRCm39) |
splice site |
probably null |
|
R7205:Arhgap33
|
UTSW |
7 |
30,232,434 (GRCm39) |
missense |
probably damaging |
0.99 |
R7241:Arhgap33
|
UTSW |
7 |
30,228,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R7259:Arhgap33
|
UTSW |
7 |
30,231,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R7319:Arhgap33
|
UTSW |
7 |
30,225,794 (GRCm39) |
missense |
probably benign |
|
R7384:Arhgap33
|
UTSW |
7 |
30,226,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7412:Arhgap33
|
UTSW |
7 |
30,222,477 (GRCm39) |
missense |
probably benign |
0.00 |
R7693:Arhgap33
|
UTSW |
7 |
30,225,537 (GRCm39) |
critical splice donor site |
probably null |
|
R7747:Arhgap33
|
UTSW |
7 |
30,223,560 (GRCm39) |
missense |
probably damaging |
0.98 |
R7893:Arhgap33
|
UTSW |
7 |
30,228,201 (GRCm39) |
missense |
probably benign |
0.34 |
R7915:Arhgap33
|
UTSW |
7 |
30,222,648 (GRCm39) |
missense |
probably benign |
0.08 |
R8819:Arhgap33
|
UTSW |
7 |
30,228,165 (GRCm39) |
missense |
probably benign |
0.09 |
R8820:Arhgap33
|
UTSW |
7 |
30,228,165 (GRCm39) |
missense |
probably benign |
0.09 |
R8912:Arhgap33
|
UTSW |
7 |
30,232,467 (GRCm39) |
splice site |
probably benign |
|
R8922:Arhgap33
|
UTSW |
7 |
30,223,417 (GRCm39) |
missense |
probably damaging |
0.99 |
R9211:Arhgap33
|
UTSW |
7 |
30,223,023 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9616:Arhgap33
|
UTSW |
7 |
30,229,367 (GRCm39) |
missense |
probably damaging |
0.99 |
R9755:Arhgap33
|
UTSW |
7 |
30,227,926 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9762:Arhgap33
|
UTSW |
7 |
30,230,950 (GRCm39) |
missense |
probably null |
1.00 |
X0034:Arhgap33
|
UTSW |
7 |
30,223,874 (GRCm39) |
small deletion |
probably benign |
|
Z1176:Arhgap33
|
UTSW |
7 |
30,222,142 (GRCm39) |
missense |
probably benign |
0.13 |
Z1177:Arhgap33
|
UTSW |
7 |
30,222,242 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Arhgap33
|
UTSW |
7 |
30,223,904 (GRCm39) |
small insertion |
probably benign |
|
Z1186:Arhgap33
|
UTSW |
7 |
30,223,860 (GRCm39) |
missense |
probably benign |
|
Z1186:Arhgap33
|
UTSW |
7 |
30,223,076 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAAGAAGTGGGGATCCTGG -3'
(R):5'- CCACTAGAGCAGGACTGGTATC -3'
Sequencing Primer
(F):5'- TCCTCAAGGAGCTGCGG -3'
(R):5'- CAGGACTGGTATCACTAGTGATCTC -3'
|
Posted On |
2018-06-22 |